A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I

1H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites

(2015) Inga Harting et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I

(2014) Roland Posset et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models—a cohort study in 180 patients

(2014) Sven F. Garbade et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Distinct roles of dopamine and subthalamic nucleus in learning and probabilistic decision making

(2012) Elizabeth J. Coulthard et al.   BRAIN

Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters

(2012) Nikolas Boy et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Neurodevelopmental and cognitive behavior of glutaryl-CoA dehydrogenase deficient knockout mice

(2012) Estela Natacha Brandt Busanello et al.   LIFE SCIENCES

The basal ganglia: motor and cognitive relationships in a clinical neurobehavioral context

(2012) Gerry Leisman et al.   REVIEWS IN THE NEUROSCIENCES

Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells

(2011) Jessica Lamp et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Diagnosis and management of glutaric aciduria type I – revised recommendations

(2011) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Use of guidelines improves the neurological outcome in glutaric aciduria type I

(2010) Jana Heringer et al.   ANNALS OF NEUROLOGY

Glutaric aciduria type I and methylmalonic aciduria: Simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood–brain barrier and the choroid plexus

(2010) Sven W. Sauer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I

(2010) Sven W. Sauer et al.   BRAIN

An evaluation of R2 as an inadequate measure for nonlinear models in pharmacological and biochemical research: a Monte Carlo approach

(2010) Andrej-Nikolai Spiess et al.   BMC Pharmacology & Toxicology

Cerebral White Matter

(2009) Jeremy D. Schmahmann et al.   Annals of the New York Academy of Sciences

Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency

(2009) Kevin A. Strauss et al.   BRAIN

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I

(2009) Inga Harting et al.   BRAIN

Cognitive, behavioural and adaptive profiles of children with glutaric aciduria type I detected through newborn screening

(2009) M. H. Beauchamp et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome

(2008) Avihu Boneh et al.   MOLECULAR GENETICS AND METABOLISM

Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: A meta-analysis

(2008) Julia Albrecht et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: ade novo case

(2008) C. Mellerio et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY